Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2389 | 7390;7391;7392 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| N2AB | 2389 | 7390;7391;7392 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| N2A | 2389 | 7390;7391;7392 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| N2B | 2343 | 7252;7253;7254 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| Novex-1 | 2343 | 7252;7253;7254 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| Novex-2 | 2343 | 7252;7253;7254 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
| Novex-3 | 2389 | 7390;7391;7392 | chr2:178774003;178774002;178774001 | chr2:179638730;179638729;179638728 |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/K | rs748735241  |
-0.565 | 0.993 | D | 0.523 | 0.88 | 0.790636350121 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| M/K | rs748735241 |
-0.565 | 0.993 | D | 0.523 | 0.88 | 0.790636350121 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/K | rs748735241 |
-0.565 | 0.993 | D | 0.523 | 0.88 | 0.790636350121 | gnomAD-4.0.0 | 7.68366E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43508E-05 | 0 | 0 |
| M/R | None | None | 0.998 | D | 0.563 | 0.875 | 0.798538031996 | gnomAD-4.0.0 | 6.36231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14265E-05 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.5134 | ambiguous | 0.5202 | ambiguous | -1.747 | Destabilizing | 0.963 | D | 0.535 | neutral | None | None | None | None | N |
| M/C | 0.6561 | likely_pathogenic | 0.6539 | pathogenic | -1.882 | Destabilizing | 1.0 | D | 0.533 | neutral | None | None | None | None | N |
| M/D | 0.8989 | likely_pathogenic | 0.9059 | pathogenic | -1.074 | Destabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| M/E | 0.4075 | ambiguous | 0.418 | ambiguous | -0.967 | Destabilizing | 0.999 | D | 0.589 | neutral | None | None | None | None | N |
| M/F | 0.2772 | likely_benign | 0.2911 | benign | -0.627 | Destabilizing | 0.969 | D | 0.518 | neutral | None | None | None | None | N |
| M/G | 0.6745 | likely_pathogenic | 0.6794 | pathogenic | -2.135 | Highly Destabilizing | 0.999 | D | 0.605 | neutral | None | None | None | None | N |
| M/H | 0.4149 | ambiguous | 0.4234 | ambiguous | -1.492 | Destabilizing | 1.0 | D | 0.579 | neutral | None | None | None | None | N |
| M/I | 0.3523 | ambiguous | 0.3638 | ambiguous | -0.705 | Destabilizing | 0.828 | D | 0.549 | neutral | D | 0.577126519 | None | None | N |
| M/K | 0.1297 | likely_benign | 0.1313 | benign | -0.744 | Destabilizing | 0.993 | D | 0.523 | neutral | D | 0.550115256 | None | None | N |
| M/L | 0.113 | likely_benign | 0.114 | benign | -0.705 | Destabilizing | 0.01 | N | 0.199 | neutral | N | 0.461723412 | None | None | N |
| M/N | 0.5257 | ambiguous | 0.5321 | ambiguous | -0.801 | Destabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | N |
| M/P | 0.993 | likely_pathogenic | 0.9934 | pathogenic | -1.026 | Destabilizing | 0.999 | D | 0.596 | neutral | None | None | None | None | N |
| M/Q | 0.171 | likely_benign | 0.1735 | benign | -0.75 | Destabilizing | 0.999 | D | 0.541 | neutral | None | None | None | None | N |
| M/R | 0.1462 | likely_benign | 0.1466 | benign | -0.568 | Destabilizing | 0.998 | D | 0.563 | neutral | D | 0.549498483 | None | None | N |
| M/S | 0.4631 | ambiguous | 0.4674 | ambiguous | -1.445 | Destabilizing | 0.995 | D | 0.514 | neutral | None | None | None | None | N |
| M/T | 0.2569 | likely_benign | 0.2596 | benign | -1.214 | Destabilizing | 0.979 | D | 0.509 | neutral | D | 0.536063829 | None | None | N |
| M/V | 0.1325 | likely_benign | 0.1353 | benign | -1.026 | Destabilizing | 0.828 | D | 0.432 | neutral | D | 0.550024671 | None | None | N |
| M/W | 0.5564 | ambiguous | 0.5624 | ambiguous | -0.735 | Destabilizing | 1.0 | D | 0.541 | neutral | None | None | None | None | N |
| M/Y | 0.4766 | ambiguous | 0.4937 | ambiguous | -0.67 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.